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Page 1
Natural genetic variation quantitatively regulates heart rate and dimension.
Gierten J, Welz B, Fitzgerald T, Thumberger T, Hummel O, Leger A, Weber P, Hassel D, Hübner N, Birney E, Wittbrodt J. Gierten J, et al. Among authors: hummel o. bioRxiv [Preprint]. 2023 Nov 2:2023.09.01.555906. doi: 10.1101/2023.09.01.555906. bioRxiv. 2023. PMID: 37693611 Free PMC article. Preprint.
Prolactin-sensitive olfactory sensory neurons regulate male preference in female mice by modulating responses to chemosensory cues.
Aoki M, Gamayun I, Wyatt A, Grünewald R, Simon-Thomas M, Philipp SE, Hummel O, Wagenpfeil S, Kattler K, Gasparoni G, Walter J, Qiao S, Grattan DR, Boehm U. Aoki M, et al. Among authors: hummel o. Sci Adv. 2021 Oct 8;7(41):eabg4074. doi: 10.1126/sciadv.abg4074. Epub 2021 Oct 8. Sci Adv. 2021. PMID: 34623921 Free PMC article.
A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion.
Witte F, Ruiz-Orera J, Mattioli CC, Blachut S, Adami E, Schulz JF, Schneider-Lunitz V, Hummel O, Patone G, Mücke MB, Šilhavý J, Heinig M, Bottolo L, Sanchis D, Vingron M, Chekulaeva M, Pravenec M, Hubner N, van Heesch S. Witte F, et al. Among authors: hummel o. Genome Biol. 2021 Jun 28;22(1):191. doi: 10.1186/s13059-021-02397-w. Genome Biol. 2021. PMID: 34183069 Free PMC article.
Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Su X, Feng Y, Rahman SA, Wu S, Li G, Rüschendorf F, Zhao L, Cui H, Liang J, Fang L, Hu H, Froehler S, Yu Y, Patone G, Hummel O, Chen Q, Raile K, Luft FC, Bähring S, Hussain K, Chen W, Zhang J, Gong M. Su X, et al. Among authors: hummel o. J Genet Genomics. 2020 Oct 20;47(10):618-626. doi: 10.1016/j.jgg.2020.07.008. Epub 2020 Oct 28. J Genet Genomics. 2020. PMID: 33358777
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH. Kim HG, et al. Among authors: hummel o. Mol Autism. 2019 Oct 22;10:35. doi: 10.1186/s13229-019-0286-0. eCollection 2019. Mol Autism. 2019. PMID: 31649809 Free PMC article.
The Translational Landscape of the Human Heart.
van Heesch S, Witte F, Schneider-Lunitz V, Schulz JF, Adami E, Faber AB, Kirchner M, Maatz H, Blachut S, Sandmann CL, Kanda M, Worth CL, Schafer S, Calviello L, Merriott R, Patone G, Hummel O, Wyler E, Obermayer B, Mücke MB, Lindberg EL, Trnka F, Memczak S, Schilling M, Felkin LE, Barton PJR, Quaife NM, Vanezis K, Diecke S, Mukai M, Mah N, Oh SJ, Kurtz A, Schramm C, Schwinge D, Sebode M, Harakalova M, Asselbergs FW, Vink A, de Weger RA, Viswanathan S, Widjaja AA, Gärtner-Rommel A, Milting H, Dos Remedios C, Knosalla C, Mertins P, Landthaler M, Vingron M, Linke WA, Seidman JG, Seidman CE, Rajewsky N, Ohler U, Cook SA, Hubner N. van Heesch S, et al. Among authors: hummel o. Cell. 2019 Jun 27;178(1):242-260.e29. doi: 10.1016/j.cell.2019.05.010. Epub 2019 May 30. Cell. 2019. PMID: 31155234 Free article.
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
Ferreira MA, Vonk JM, Baurecht H, Marenholz I, Tian C, Hoffman JD, Helmer Q, Tillander A, Ullemar V, van Dongen J, Lu Y, Rüschendorf F, Esparza-Gordillo J, Medway CW, Mountjoy E, Burrows K, Hummel O, Grosche S, Brumpton BM, Witte JS, Hottenga JJ, Willemsen G, Zheng J, Rodríguez E, Hotze M, Franke A, Revez JA, Beesley J, Matheson MC, Dharmage SC, Bain LM, Fritsche LG, Gabrielsen ME, Balliu B; 23andMe Research Team; AAGC collaborators; BIOS consortium; LifeLines Cohort Study; Nielsen JB, Zhou W, Hveem K, Langhammer A, Holmen OL, Løset M, Abecasis GR, Willer CJ, Arnold A, Homuth G, Schmidt CO, Thompson PJ, Martin NG, Duffy DL, Novak N, Schulz H, Karrasch S, Gieger C, Strauch K, Melles RB, Hinds DA, Hübner N, Weidinger S, Magnusson PKE, Jansen R, Jorgenson E, Lee YA, Boomsma DI, Almqvist C, Karlsson R, Koppelman GH, Paternoster L. Ferreira MA, et al. Among authors: hummel o. Nat Genet. 2017 Dec;49(12):1752-1757. doi: 10.1038/ng.3985. Epub 2017 Oct 30. Nat Genet. 2017. PMID: 29083406 Free PMC article.
Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease.
Rubattu S, Di Castro S, Schulz H, Geurts AM, Cotugno M, Bianchi F, Maatz H, Hummel O, Falak S, Stanzione R, Marchitti S, Scarpino S, Giusti B, Kura A, Gensini GF, Peyvandi F, Mannucci PM, Rasura M, Sciarretta S, Dwinell MR, Hubner N, Volpe M. Rubattu S, et al. Among authors: hummel o. J Am Heart Assoc. 2016 Feb 17;5(2):e002701. doi: 10.1161/JAHA.115.002701. J Am Heart Assoc. 2016. PMID: 26888427 Free PMC article.
43 results